MEIOC: Meiosis Specific With Coiled-Coil Domain
A key regulator of meiotic prophase I, essential for gametogenesis and fertility.
Gene Information Card
| Symbol | MEIOC |
|---|---|
| Full Name | Meiosis specific with coiled-coil domain |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000214595 |
| UniProt ID | Q5T7P8 |
| OMIM ID | 617598 |
| HGNC ID | 44233 |
| Aliases | C17orf104, FLJ45831, MGC16384 |
Description
MEIOC (Meiosis Specific With Coiled-Coil Domain) is a protein-coding gene located on chromosome 17q21.31. It encodes a coiled-coil domain-containing protein that is specifically expressed during meiosis, particularly in spermatocytes and oocytes. MEIOC is essential for meiotic prophase I progression, homologous chromosome pairing, and recombination. Loss of MEIOC function leads to meiotic arrest and infertility in both males and females.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 46 | Meiotic arrest due to loss of MEIOC function | OMIM 617598; PMID: 27723721 |
| Premature ovarian failure 18 | Meiotic arrest in oocytes due to MEIOC deficiency | OMIM 617598; PMID: 27723721 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 3.2 | Low |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.5 | Not detected |
| Breast | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | N/A | High expression during meiotic prophase I |
| Oocytes | N/A | High expression during meiotic prophase I |
| HEK293 | 0.1 | Not detected |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, loss of function |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
MEIOC loss-of-function mutations cause meiotic arrest and infertility (spermatogenic failure 46, premature ovarian failure 18).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Meiotic recombination
• Homologous recombination
Protein Summary
The MEIOC protein contains a coiled-coil domain and localizes to meiotic chromosomes. It interacts with YTHDC2 to regulate the translation of meiotic transcripts. MEIOC is required for the progression of meiotic prophase I, including synapsis and recombination. In humans, biallelic loss-of-function mutations cause meiotic arrest leading to non-obstructive azoospermia in males and premature ovarian failure in females.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEIOC Knockout HEK293 Cell Line | EDJ-KQ14233 | Human | 284071 | Details Get a Quote |
| MEIOC Knockout A-549 Cell Line | EDJ-KQ44209 | Human | 284071 | Details Get a Quote |
| MEIOC Knockout HeLa Cell Line | EDJ-KQ59433 | Human | 284071 | Details Get a Quote |
| MEIOC Knockout HCT 116 Cell Line | EDJ-KQ76276 | Human | 284071 | Details Get a Quote |
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